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Test Code KD2T Krabbe Disease Second-Tier Newborn Screen, Blood Spot


Necessary Information


1. Birth weight (grams)

2. Time of birth (24-hour time)

3. Gestational age (weeks)



Specimen Required


Supplies: Card-Blood Spot Collection (Filter Paper) (T493)

Collection Container/Tube:

Preferred: Blood Spot Collection Card (T493)

Acceptable: Ahlstrom 226 filter paper, Munktell filter paper, Whatman Protein Saver 903 paper, or blood collected in tubes containing heparin or EDTA and dried on filter paper.

Specimen Volume: 3 blood spots

Collection Instructions:

1. Completely fill at least 3 circles on the filter paper card (approximated 100-microliters blood per circle).

2. Let blood dry on filter paper at room temperature in a horizontal position for 3 or more hours.

3. Do not expose specimen to heat or direct sunlight.

4. Do not stack wet specimens.

5. Keep specimen dry.

Additional Information:

1. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777) in Special Instructions.

2. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800) in Special Instructions.


Forms

Biochemical Genetics Patient Information (T602) in Special Instructions

Useful For

Second-tier testing of newborns with an abnormal screening result for Krabbe disease

 

Follow-up testing after an abnormal newborn screening result for Krabbe disease

Method Name

Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)/Polymerase Chain Reaction with Gel Electrophoresis

Reporting Name

Krabbe Disease 2ND Tier NBS, BS

Specimen Type

Whole blood

Specimen Minimum Volume

2 blood spots

Specimen Stability Information

Specimen Type Temperature Time
Whole blood Ambient (preferred) 96 days
  Frozen  96 days
  Refrigerated  96 days

Reject Due To

Hemolysis

NA

Lipemia

NA

Icterus

NA

Other

Blood spot specimen that shows serum rings, insufficient specimen

Reference Values

An interpretive report is provided.

Day(s) and Time(s) Performed

Monday through Saturday; 4 p.m., Sunday; 1 p.m.

Analytic Time

1 day

Performing Laboratory

Mayo Medical Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

82542-Psychosine

81401-30-kb deletion

LOINC Code Information

Test ID Test Order Name Order LOINC Value
KD2T Krabbe Disease 2ND Tier NBS, BS In Process

 

Result ID Test Result Name Result LOINC Value
48536 Interpretation In Process
48535 Reviewed By In Process
BG704 Birth Weight (grams, XXXX) 8339-4
BG705 Time of Birth (24hr Time, XX:XX) 57715-5
BG706 Gestational Age (weeks, XX.X) 76516-4